Full data view for gene TACO1

Information The variants shown are described using the NM_016360.3 transcript reference sequence.

2 entries on 1 page. Showing entries 1 - 2.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/. - c.472dup r.472dup p.His158Profs*8 Both (homozygous) - pathogenic (recessive) g.61683757dup g.63606397dup 472insC - TACO1_000010 mRNA level greatly reduced PubMed: Weraarpachai 2009 - - Germline yes - - - - DNA, RNA RT-PCR, SEQ - - LS FamPatIV5 PubMed: Weraarpachai 2009, PubMed: Seeger 2010 5-generation family, 5 affected (3F, 2M), unaffected heterozygous carrier parents/relatives M yes Germany Kurdish - - - - 5 Johan den Dunnen
+/. - c.472dup r.(?) p.(His158Profs*8) Both (homozygous) - pathogenic (recessive) g.61683757dup g.63606397dup 472insC - TACO1_000010 - PubMed: Oktay 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - wes LS patient PubMed: Oktay 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes Turkey - - - - - 1 Johan den Dunnen
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